Human Phenotype Ontology 
Grandparent Node:
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Growth abnormality (HP:0001507)help
Parent Node:
expand
Abnormality of body height (HP:0000002)help
Parent Node:
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Growth delay (HP:0001510)help
..Starting node
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Short stature (HP:0004322)help
Term ID: 4322
Name: Short stature
Synonym: Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile
Definition: A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Comments:
Reference: HP:0004322
Genes and Diseases:
 
       Child Nodes:
........expandPituitary dwarfism (HP:0000839) help
........expandDisproportionate short stature (HP:0003498) help
................... HP:0003521 Disproportionate short-trunk short stature
................... HP:0008873 Disproportionate short-limb short stature
........expandProportionate short stature (HP:0003508) help
................... HP:0003502 Mild short stature
................... HP:0003510 Severe short stature
................... HP:0008848 Moderately short stature
........expandBirth length less than 3rd percentile (HP:0003561) help
........expandAsymmetric short stature (HP:0008929) help

 Sister Nodes: 
..expandAbsent pubertal growth spurt (HP:0031087) help
..expandDelayed puberty (HP:0000823) help
..expandIntrauterine growth retardation (HP:0001511) help
..expandPostnatal growth retardation (HP:0008897) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0004322HP:0004322Short stature0A2ML1 CL E G H144568648ORPHA178923336610627
HP:0004322HP:0004322Short stature0A2ML1 CL E G H144568648ORPHA191623336610627
HP:0004322HP:0004322Short stature0AAAS CL E G H8086869ORPHA116213666605378
HP:0004322HP:0004322Short stature0AAAS CL E G H8086869ORPHA117413666605378
HP:0004322HP:0004322Short stature0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM116213666605378
HP:0004322HP:0004322Short stature0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM117413666605378
HP:0004322HP:0004322Short stature0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0004322HP:0004322Short stature0AASS CL E G H10157268700Saccharopinuria268700C0268556OMIM19717366605113
HP:0004322HP:0004322Short stature0AASS CL E G H10157268700Saccharopinuria268700C0268556OMIM110817366605113
HP:0004322HP:0004322Short stature0ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM176242603201
HP:0004322HP:0004322Short stature0ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM180842603201
HP:0004322HP:0004322Short stature0ABHD5 CL E G H5109998907ORPHA117321396604780
HP:0004322HP:0004322Short stature0ABHD5 CL E G H5109998907ORPHA118421396604780
HP:0004322HP:0004322Short stature0ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1359319155760
HP:0004322HP:0004322Short stature0ACAN CL E G H176165800Osteochondritis dissecans165800C0029421OMIM1456319155760
HP:0004322HP:0004322Short stature0ACD CL E G H650573322ORPHA122925070609377
HP:0004322HP:0004322Short stature0ACD CL E G H650573322ORPHA132125070609377
HP:0004322HP:0004322Short stature0ACP5 CL E G H54607944Spondyloenchondrodysplasia with immune dysregulation607944C1842763OMIM1149124171640
HP:0004322HP:0004322Short stature0ACP5 CL E G H54607944Spondyloenchondrodysplasia with immune dysregulation607944C1842763OMIM1197124171640
HP:0004322HP:0004322Short stature0ACTB CL E G H6079107ORPHA1322132102630
HP:0004322HP:0004322Short stature0ACTB CL E G H6079107ORPHA1349132102630
HP:0004322HP:0004322Short stature0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1322132102630
HP:0004322HP:0004322Short stature0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1349132102630
HP:0004322HP:0004322Short stature0ADAMTS10 CL E G H817943449Mehes syndromeORPHA124113201608990
HP:0004322HP:0004322Short stature0ADAMTS10 CL E G H817943449Mehes syndromeORPHA136313201608990
HP:0004322HP:0004322Short stature0ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM159917109607511
HP:0004322HP:0004322Short stature0ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM175117109607511
HP:0004322HP:0004322Short stature0ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM1920218604539
HP:0004322HP:0004322Short stature0ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11000218604539
HP:0004322HP:0004322Short stature0ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124214631612277
HP:0004322HP:0004322Short stature0ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124414631612277
HP:0004322HP:0004322Short stature0ADAR CL E G H10351ORPHA1471225146920
HP:0004322HP:0004322Short stature0ADAR CL E G H10351ORPHA1654225146920
HP:0004322HP:0004322Short stature0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0004322HP:0004322Short stature0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0004322HP:0004322Short stature0AFF4 CL E G H27125616368Chops syndrome616368C4085597OMIM111217869604417
HP:0004322HP:0004322Short stature0AFF4 CL E G H27125616368Chops syndrome616368C4085597OMIM115717869604417
HP:0004322HP:0004322Short stature0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1330318613228
HP:0004322HP:0004322Short stature0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1355318613228
HP:0004322HP:0004322Short stature0AGL CL E G H178366Arnold Stickler Bourne syndromeORPHA11299321610860
HP:0004322HP:0004322Short stature0AGL CL E G H178366Arnold Stickler Bourne syndromeORPHA11529321610860
HP:0004322HP:0004322Short stature0AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11299321610860
HP:0004322HP:0004322Short stature0AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11529321610860
HP:0004322HP:0004322Short stature0AHSG CL E G H1972850ORPHA161349138680
HP:0004322HP:0004322Short stature0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM13469722138250
HP:0004322HP:0004322Short stature0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM13929722138250
HP:0004322HP:0004322Short stature0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM13469722138250
HP:0004322HP:0004322Short stature0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM13929722138250
HP:0004322HP:0004322Short stature0ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1437403609523
HP:0004322HP:0004322Short stature0ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1475403609523
HP:0004322HP:0004322Short stature0ALDOA CL E G H226611881HNSHA due to aldolase A deficiency611881C0272066OMIM1353414103850
HP:0004322HP:0004322Short stature0ALDOA CL E G H226611881HNSHA due to aldolase A deficiency611881C0272066OMIM1381414103850
HP:0004322HP:0004322Short stature0ALMS1 CL E G H784064ORPHA12504428606844
HP:0004322HP:0004322Short stature0ALMS1 CL E G H784064ORPHA13342428606844
HP:0004322HP:0004322Short stature0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM12504428606844
HP:0004322HP:0004322Short stature0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13342428606844
HP:0004322HP:0004322Short stature0ALPL CL E G H249241510Childhood hypophosphatasia241510C0220743OMIM1575438171760
HP:0004322HP:0004322Short stature0ALPL CL E G H249241510Childhood hypophosphatasia241510C0220743OMIM1671438171760
HP:0004322HP:0004322Short stature0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM124526837300647
HP:0004322HP:0004322Short stature0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM126326837300647
HP:0004322HP:0004322Short stature0AMPD2 CL E G H271401805ORPHA1172469102771
HP:0004322HP:0004322Short stature0AMPD2 CL E G H271401805ORPHA1230469102771
HP:0004322HP:0004322Short stature0ANK1 CL E G H286251066ORPHA1567492612641
HP:0004322HP:0004322Short stature0ANK1 CL E G H286251066ORPHA1604492612641
HP:0004322HP:0004322Short stature0ANKLE2 CL E G H231412512ORPHA118429101616062
HP:0004322HP:0004322Short stature0ANKLE2 CL E G H231412512ORPHA118929101616062
HP:0004322HP:0004322Short stature0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM118429101616062
HP:0004322HP:0004322Short stature0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM118929101616062
HP:0004322HP:0004322Short stature0ANKRD11 CL E G H291232332ORPHA1110121316611192
HP:0004322HP:0004322Short stature0ANKRD11 CL E G H291232332ORPHA1118421316611192
HP:0004322HP:0004322Short stature0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1110121316611192
HP:0004322HP:0004322Short stature0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1118421316611192
HP:0004322HP:0004322Short stature0ANTXR1 CL E G H841682067ORPHA18321014606410
HP:0004322HP:0004322Short stature0ANTXR1 CL E G H841682067ORPHA18421014606410
HP:0004322HP:0004322Short stature0AP4B1 CL E G H10717280763ORPHA1189572607245
HP:0004322HP:0004322Short stature0AP4B1 CL E G H10717280763ORPHA1254572607245
HP:0004322HP:0004322Short stature0AP4E1 CL E G H23431280763ORPHA1238573607244
HP:0004322HP:0004322Short stature0AP4E1 CL E G H23431280763ORPHA1332573607244
HP:0004322HP:0004322Short stature0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0004322HP:0004322Short stature0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0004322HP:0004322Short stature0AP4M1 CL E G H9179280763ORPHA1199574602296
HP:0004322HP:0004322Short stature0AP4M1 CL E G H9179280763ORPHA1264574602296
HP:0004322HP:0004322Short stature0AP4S1 CL E G H11154280763ORPHA189575607243
HP:0004322HP:0004322Short stature0AP4S1 CL E G H11154280763ORPHA1110575607243
HP:0004322HP:0004322Short stature0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM189575607243
HP:0004322HP:0004322Short stature0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1110575607243
HP:0004322HP:0004322Short stature0AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM1239634107777
HP:0004322HP:0004322Short stature0AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM1247634107777
HP:0004322HP:0004322Short stature0ARID1A CL E G H82891465ORPHA138311110603024
HP:0004322HP:0004322Short stature0ARID1A CL E G H82891465ORPHA144211110603024
HP:0004322HP:0004322Short stature0ARID1B CL E G H574921465ORPHA186618040614556
HP:0004322HP:0004322Short stature0ARID1B CL E G H574921465ORPHA195818040614556
HP:0004322HP:0004322Short stature0ARID1B CL E G H57492251056ORPHA186618040614556
HP:0004322HP:0004322Short stature0ARID1B CL E G H57492251056ORPHA195818040614556
HP:0004322HP:0004322Short stature0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0004322HP:0004322Short stature0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0004322HP:0004322Short stature0ARID2 CL E G H1965281465ORPHA117918037609539
HP:0004322HP:0004322Short stature0ARID2 CL E G H1965281465ORPHA118618037609539
HP:0004322HP:0004322Short stature0ARL6 CL E G H84100110ORPHA111313210608845
HP:0004322HP:0004322Short stature0ARL6 CL E G H84100110ORPHA114313210608845
HP:0004322HP:0004322Short stature0ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA16216876606036
HP:0004322HP:0004322Short stature0ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA18416876606036
HP:0004322HP:0004322Short stature0ARSE CL E G H415302950Chondrodysplasia punctata 1, X-linked recessive302950C1844853OMIM1719300180
HP:0004322HP:0004322Short stature0ARVCF CL E G H421567ORPHA1544728602269
HP:0004322HP:0004322Short stature0ARVCF CL E G H421567ORPHA1550728602269
HP:0004322HP:0004322Short stature0ARX CL E G H1703022508ORPHA156518060300382
HP:0004322HP:0004322Short stature0ARX CL E G H1703022508ORPHA162418060300382
HP:0004322HP:0004322Short stature0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM156518060300382
HP:0004322HP:0004322Short stature0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM162418060300382
HP:0004322HP:0004322Short stature0ASAH1 CL E G H427333ORPHA1420735613468
HP:0004322HP:0004322Short stature0ASAH1 CL E G H427333ORPHA1593735613468
HP:0004322HP:0004322Short stature0ASL CL E G H43523Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1C2931135ORPHA1423746608310
HP:0004322HP:0004322Short stature0ASL CL E G H43523Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1C2931135ORPHA1469746608310
HP:0004322HP:0004322Short stature0ASPM CL E G H2592662512ORPHA192019048605481
HP:0004322HP:0004322Short stature0ASPM CL E G H2592662512ORPHA1110319048605481
HP:0004322HP:0004322Short stature0ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM192019048605481
HP:0004322HP:0004322Short stature0ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM1110319048605481
HP:0004322HP:0004322Short stature0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0004322HP:0004322Short stature0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0004322HP:0004322Short stature0ATM CL E G H472100ORPHA110320795607585
HP:0004322HP:0004322Short stature0ATM CL E G H472100ORPHA111382795607585
HP:0004322HP:0004322Short stature0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM110320795607585
HP:0004322HP:0004322Short stature0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM111382795607585
HP:0004322HP:0004322Short stature0ATP6V0A2 CL E G H235452834ORPHA141718481611716
HP:0004322HP:0004322Short stature0ATP6V0A2 CL E G H235452834ORPHA145818481611716
HP:0004322HP:0004322Short stature0ATP6V0A2 CL E G H23545357074ORPHA141718481611716
HP:0004322HP:0004322Short stature0ATP6V0A2 CL E G H23545357074ORPHA145818481611716
HP:0004322HP:0004322Short stature0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM141718481611716
HP:0004322HP:0004322Short stature0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM145818481611716
HP:0004322HP:0004322Short stature0ATP6V1A CL E G H523357074ORPHA179851607027
HP:0004322HP:0004322Short stature0ATP6V1A CL E G H523357074ORPHA193851607027
HP:0004322HP:0004322Short stature0ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1115854606939
HP:0004322HP:0004322Short stature0ATP6V1B2 CL E G H526616455Zimmermann-Laband syndrome 2616455C4225321OMIM1118854606939
HP:0004322HP:0004322Short stature0ATP6V1E1 CL E G H529357074ORPHA1160857108746
HP:0004322HP:0004322Short stature0ATP6V1E1 CL E G H529357074ORPHA1168857108746
HP:0004322HP:0004322Short stature0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1160857108746
HP:0004322HP:0004322Short stature0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1168857108746
HP:0004322HP:0004322Short stature0ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM1897869300011
HP:0004322HP:0004322Short stature0ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11003869300011
HP:0004322HP:0004322Short stature0ATP8A2 CL E G H517611766ORPHA112613533605870
HP:0004322HP:0004322Short stature0ATP8A2 CL E G H517611766ORPHA119313533605870
HP:0004322HP:0004322Short stature0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM120918802608918
HP:0004322HP:0004322Short stature0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM121918802608918
HP:0004322HP:0004322Short stature0ATR CL E G H545808Baker Vinters syndromeORPHA1755882601215
HP:0004322HP:0004322Short stature0ATR CL E G H545808Baker Vinters syndromeORPHA11007882601215
HP:0004322HP:0004322Short stature0ATRIP CL E G H84126808Baker Vinters syndromeORPHA123933499606605
HP:0004322HP:0004322Short stature0ATRIP CL E G H84126808Baker Vinters syndromeORPHA133333499606605
HP:0004322HP:0004322Short stature0ATRX CL E G H546847ORPHA11103886300032
HP:0004322HP:0004322Short stature0ATRX CL E G H546847ORPHA11217886300032
HP:0004322HP:0004322Short stature0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11103886300032
HP:0004322HP:0004322Short stature0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11217886300032
HP:0004322HP:0004322Short stature0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM143914262607270
HP:0004322HP:0004322Short stature0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM145414262607270
HP:0004322HP:0004322Short stature0AVPR2 CL E G H554304800Nephrogenic diabetes insipidus, X-linked304800C1563705OMIM1371897300538
HP:0004322HP:0004322Short stature0AVPR2 CL E G H554304800Nephrogenic diabetes insipidus, X-linked304800C1563705OMIM1382897300538
HP:0004322HP:0004322Short stature0B3GALT6 CL E G H12679275496ORPHA128117978615291
HP:0004322HP:0004322Short stature0B3GALT6 CL E G H12679275496ORPHA133717978615291
HP:0004322HP:0004322Short stature0B3GALT6 CL E G H12679293359ORPHA128117978615291
HP:0004322HP:0004322Short stature0B3GALT6 CL E G H12679293359ORPHA133717978615291
HP:0004322HP:0004322Short stature0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM189923606374
HP:0004322HP:0004322Short stature0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1126923606374
HP:0004322HP:0004322Short stature0B4GALT7 CL E G H1128575496ORPHA1175930604327
HP:0004322HP:0004322Short stature0B4GALT7 CL E G H1128575496ORPHA1237930604327
HP:0004322HP:0004322Short stature0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1175930604327
HP:0004322HP:0004322Short stature0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1237930604327
HP:0004322HP:0004322Short stature0BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14417397603811
HP:0004322HP:0004322Short stature0BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14517397603811
HP:0004322HP:0004322Short stature0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0004322HP:0004322Short stature0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0004322HP:0004322Short stature0BBIP1 CL E G H92482110ORPHA15928093613605
HP:0004322HP:0004322Short stature0BBIP1 CL E G H92482110ORPHA17128093613605
HP:0004322HP:0004322Short stature0BBS1 CL E G H582110ORPHA1491966209901
HP:0004322HP:0004322Short stature0BBS1 CL E G H582110ORPHA1582966209901
HP:0004322HP:0004322Short stature0BBS10 CL E G H79738110ORPHA143826291610148
HP:0004322HP:0004322Short stature0BBS10 CL E G H79738110ORPHA152826291610148
HP:0004322HP:0004322Short stature0BBS12 CL E G H166379110ORPHA135526648610683
HP:0004322HP:0004322Short stature0BBS12 CL E G H166379110ORPHA143926648610683
HP:0004322HP:0004322Short stature0BBS2 CL E G H583110ORPHA1482967606151
HP:0004322HP:0004322Short stature0BBS2 CL E G H583110ORPHA1585967606151
HP:0004322HP:0004322Short stature0BBS4 CL E G H585110ORPHA1299969600374
HP:0004322HP:0004322Short stature0BBS4 CL E G H585110ORPHA1378969600374
HP:0004322HP:0004322Short stature0BBS5 CL E G H129880110ORPHA1147970603650
HP:0004322HP:0004322Short stature0BBS5 CL E G H129880110ORPHA1199970603650
HP:0004322HP:0004322Short stature0BBS7 CL E G H55212110ORPHA125418758607590
HP:0004322HP:0004322Short stature0BBS7 CL E G H55212110ORPHA132618758607590
HP:0004322HP:0004322Short stature0BBS9 CL E G H27241110ORPHA142630000607968
HP:0004322HP:0004322Short stature0BBS9 CL E G H27241110ORPHA151230000607968
HP:0004322HP:0004322Short stature0BCOR CL E G H54880568Aggressive fibromatosisORPHA150220893300485
HP:0004322HP:0004322Short stature0BCOR CL E G H54880568Aggressive fibromatosisORPHA153620893300485
HP:0004322HP:0004322Short stature0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM150220893300485
HP:0004322HP:0004322Short stature0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM153620893300485
HP:0004322HP:0004322Short stature0BCR CL E G H613261330ORPHA12141014151410
HP:0004322HP:0004322Short stature0BCR CL E G H613261330ORPHA12171014151410
HP:0004322HP:0004322Short stature0BDNF CL E G H627893ORPHA1561033113505
HP:0004322HP:0004322Short stature0BLM CL E G H641125ORPHA120481058604610
HP:0004322HP:0004322Short stature0BLM CL E G H641125ORPHA124251058604610
HP:0004322HP:0004322Short stature0BMP2 CL E G H650261295ORPHA1921069112261
HP:0004322HP:0004322Short stature0BMP2 CL E G H650261295ORPHA11111069112261
HP:0004322HP:0004322Short stature0BMPR1B CL E G H6582639ORPHA12511077603248
HP:0004322HP:0004322Short stature0BMPR1B CL E G H6582639ORPHA12731077603248
HP:0004322HP:0004322Short stature0BMPR1B CL E G H65893388ORPHA12511077603248
HP:0004322HP:0004322Short stature0BMPR1B CL E G H65893388ORPHA12731077603248
HP:0004322HP:0004322Short stature0BRAF CL E G H673500ORPHA16181097164757
HP:0004322HP:0004322Short stature0BRAF CL E G H673500ORPHA16801097164757
HP:0004322HP:0004322Short stature0BRAF CL E G H673648ORPHA16181097164757
HP:0004322HP:0004322Short stature0BRAF CL E G H673648ORPHA16801097164757
HP:0004322HP:0004322Short stature0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16181097164757
HP:0004322HP:0004322Short stature0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16801097164757
HP:0004322HP:0004322Short stature0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0004322HP:0004322Short stature0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0004322HP:0004322Short stature0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM16181097164757
HP:0004322HP:0004322Short stature0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM16801097164757
HP:0004322HP:0004322Short stature0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16181097164757
HP:0004322HP:0004322Short stature0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16801097164757
HP:0004322HP:0004322Short stature0BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM16181097164757
HP:0004322HP:0004322Short stature0BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM16801097164757
HP:0004322HP:0004322Short stature0BRCA1 CL E G H67284ORPHA1122071100113705
HP:0004322HP:0004322Short stature0BRCA1 CL E G H67284ORPHA1125861100113705
HP:0004322HP:0004322Short stature0BRCA2 CL E G H67584ORPHA1139121101600185
HP:0004322HP:0004322Short stature0BRCA2 CL E G H67584ORPHA1147421101600185
HP:0004322HP:0004322Short stature0BRCA2 CL E G H675605724Fanconi anemia, complementation group D1605724C1838457OMIM1139121101600185
HP:0004322HP:0004322Short stature0BRCA2 CL E G H675605724Fanconi anemia, complementation group D1605724C1838457OMIM1147421101600185
HP:0004322HP:0004322Short stature0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM114211551604902
HP:0004322HP:0004322Short stature0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM115811551604902
HP:0004322HP:0004322Short stature0BRIP1 CL E G H8399084ORPHA1346420473605882
HP:0004322HP:0004322Short stature0BRIP1 CL E G H8399084ORPHA1377820473605882
HP:0004322HP:0004322Short stature0BTK CL E G H69547ORPHA15001133300300
HP:0004322HP:0004322Short stature0BTK CL E G H69547ORPHA15481133300300
HP:0004322HP:0004322Short stature0BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM15001133300300
HP:0004322HP:0004322Short stature0BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM15481133300300
HP:0004322HP:0004322Short stature0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0004322HP:0004322Short stature0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0004322HP:0004322Short stature0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0004322HP:0004322Short stature0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0004322HP:0004322Short stature0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM15111149602860
HP:0004322HP:0004322Short stature0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM16171149602860
HP:0004322HP:0004322Short stature0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0004322HP:0004322Short stature0C1R CL E G H71575392ORPHA1961246613785
HP:0004322HP:0004322Short stature0C1R CL E G H71575392ORPHA11041246613785
HP:0004322HP:0004322Short stature0C1S CL E G H71675392ORPHA11211247120580
HP:0004322HP:0004322Short stature0C1S CL E G H71675392ORPHA12011247120580
HP:0004322HP:0004322Short stature0C8orf37 CL E G H157657110ORPHA127232614477
HP:0004322HP:0004322Short stature0CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11041373611492
HP:0004322HP:0004322Short stature0CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11191373611492
HP:0004322HP:0004322Short stature0CA8 CL E G H7671766ORPHA1771382114815
HP:0004322HP:0004322Short stature0CA8 CL E G H7671766ORPHA1831382114815
HP:0004322HP:0004322Short stature0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM15831497300172
HP:0004322HP:0004322Short stature0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM16331497300172
HP:0004322HP:0004322Short stature0CASP8 CL E G H841607271Caspase-8 deficiency607271C1846545OMIM11941509601763
HP:0004322HP:0004322Short stature0CASP8 CL E G H841607271Caspase-8 deficiency607271C1846545OMIM12301509601763
HP:0004322HP:0004322Short stature0CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA113181514601199
HP:0004322HP:0004322Short stature0CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA115691514601199
HP:0004322HP:0004322Short stature0CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1811527601047
HP:0004322HP:0004322Short stature0CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM1851527601047
HP:0004322HP:0004322Short stature0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA124228909300859
HP:0004322HP:0004322Short stature0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA125028909300859
HP:0004322HP:0004322Short stature0CCDC8 CL E G H839872616ORPHA14725367614145
HP:0004322HP:0004322Short stature0CCDC8 CL E G H839872616ORPHA19525367614145
HP:0004322HP:0004322Short stature0CCDC8 CL E G H83987614205Three M syndrome 3614205C3280146OMIM14725367614145
HP:0004322HP:0004322Short stature0CCDC8 CL E G H83987614205Three M syndrome 3614205C3280146OMIM19525367614145
HP:0004322HP:0004322Short stature0CCN6 CL E G H88381159ORPHA18612771603400
HP:0004322HP:0004322Short stature0CCN6 CL E G H88381159ORPHA18712771603400
HP:0004322HP:0004322Short stature0CCNQ CL E G H92002140952ORPHA123928434300708
HP:0004322HP:0004322Short stature0CCNQ CL E G H92002140952ORPHA124428434300708
HP:0004322HP:0004322Short stature0CCNQ CL E G H92002300707STAR syndrome300707C2678045OMIM123928434300708
HP:0004322HP:0004322Short stature0CCNQ CL E G H92002300707STAR syndrome300707C2678045OMIM124428434300708
HP:0004322HP:0004322Short stature0CD96 CL E G H10225211750C syndrome211750C0796095OMIM15616892606037
HP:0004322HP:0004322Short stature0CD96 CL E G H10225211750C syndrome211750C0796095OMIM16216892606037
HP:0004322HP:0004322Short stature0CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA15616892606037
HP:0004322HP:0004322Short stature0CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA16216892606037
HP:0004322HP:0004322Short stature0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM15001739603465
HP:0004322HP:0004322Short stature0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM15421739603465
HP:0004322HP:0004322Short stature0CDCA7 CL E G H838792268ORPHA15614628609937
HP:0004322HP:0004322Short stature0CDCA7 CL E G H838792268ORPHA110314628609937
HP:0004322HP:0004322Short stature0CDH3 CL E G H10011573Craniofacial dysostosis arthrogryposis progeroid appearenceORPHA14101762114021
HP:0004322HP:0004322Short stature0CDH3 CL E G H10011573Craniofacial dysostosis arthrogryposis progeroid appearenceORPHA15231762114021
HP:0004322HP:0004322Short stature0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM1901770603464
HP:0004322HP:0004322Short stature0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM1941770603464
HP:0004322HP:0004322Short stature0CDK5RAP2 CL E G H557552512ORPHA145418672608201
HP:0004322HP:0004322Short stature0CDK5RAP2 CL E G H557552512ORPHA146318672608201
HP:0004322HP:0004322Short stature0CDK6 CL E G H10212512ORPHA1451777603368
HP:0004322HP:0004322Short stature0CDKN1C CL E G H1028436144ORPHA16731786600856
HP:0004322HP:0004322Short stature0CDKN1C CL E G H1028436144ORPHA18061786600856
HP:0004322HP:0004322Short stature0CDON CL E G H5093795496ORPHA148917104608707
HP:0004322HP:0004322Short stature0CDON CL E G H5093795496ORPHA151817104608707
HP:0004322HP:0004322Short stature0CDON CL E G H50937280200ORPHA148917104608707
HP:0004322HP:0004322Short stature0CDON CL E G H50937280200ORPHA151817104608707
HP:0004322HP:0004322Short stature0CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1721802602593
HP:0004322HP:0004322Short stature0CDSN CL E G H1041270300Peeling skin syndrome270300C1849193OMIM1761802602593
HP:0004322HP:0004322Short stature0CENPE CL E G H1062808Baker Vinters syndromeORPHA12521856117143
HP:0004322HP:0004322Short stature0CENPE CL E G H1062808Baker Vinters syndromeORPHA12621856117143
HP:0004322HP:0004322Short stature0CENPE CL E G H1062616051Primary autosomal recessive microcephaly 13616051C4015080OMIM12521856117143
HP:0004322HP:0004322Short stature0CENPE CL E G H1062616051Primary autosomal recessive microcephaly 13616051C4015080OMIM12621856117143
HP:0004322HP:0004322Short stature0CENPJ CL E G H558352512ORPHA134717272609279
HP:0004322HP:0004322Short stature0CENPJ CL E G H558352512ORPHA139917272609279
HP:0004322HP:0004322Short stature0CENPJ CL E G H55835808Baker Vinters syndromeORPHA134717272609279
HP:0004322HP:0004322Short stature0CENPJ CL E G H55835808Baker Vinters syndromeORPHA139917272609279
HP:0004322HP:0004322Short stature0CENPJ CL E G H55835613676Seckel syndrome 4613676C3888212OMIM134717272609279
HP:0004322HP:0004322Short stature0CENPJ CL E G H55835613676Seckel syndrome 4613676C3888212OMIM139917272609279
HP:0004322HP:0004322Short stature0CEP135 CL E G H96622512ORPHA117629086611423
HP:0004322HP:0004322Short stature0CEP135 CL E G H96622512ORPHA124529086611423
HP:0004322HP:0004322Short stature0CEP152 CL E G H229952512ORPHA133429298613529
HP:0004322HP:0004322Short stature0CEP152 CL E G H229952512ORPHA140429298613529
HP:0004322HP:0004322Short stature0CEP152 CL E G H22995808Baker Vinters syndromeORPHA133429298613529
HP:0004322HP:0004322Short stature0CEP152 CL E G H22995808Baker Vinters syndromeORPHA140429298613529
HP:0004322HP:0004322Short stature0CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM133429298613529
HP:0004322HP:0004322Short stature0CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM140429298613529
HP:0004322HP:0004322Short stature0CEP164 CL E G H228973156ORPHA149829182614848
HP:0004322HP:0004322Short stature0CEP164 CL E G H228973156ORPHA169229182614848
HP:0004322HP:0004322Short stature0CEP290 CL E G H80184110ORPHA1153529021610142
HP:0004322HP:0004322Short stature0CEP290 CL E G H80184110ORPHA1190229021610142
HP:0004322HP:0004322Short stature0CEP290 CL E G H801843156ORPHA1153529021610142
HP:0004322HP:0004322Short stature0CEP290 CL E G H801843156ORPHA1190229021610142
HP:0004322HP:0004322Short stature0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0004322HP:0004322Short stature0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0004322HP:0004322Short stature0CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM121230794607951
HP:0004322HP:0004322Short stature0CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM127530794607951
HP:0004322HP:0004322Short stature0CEP63 CL E G H802542512ORPHA116725815614724
HP:0004322HP:0004322Short stature0CEP63 CL E G H802542512ORPHA120025815614724
HP:0004322HP:0004322Short stature0CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM116725815614724
HP:0004322HP:0004322Short stature0CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM120025815614724
HP:0004322HP:0004322Short stature0CFAP410 CL E G H755602271Spondylometaphyseal dysplasia axial602271C1865695OMIM12701260603191
HP:0004322HP:0004322Short stature0CFAP410 CL E G H755602271Spondylometaphyseal dysplasia axial602271C1865695OMIM13351260603191
HP:0004322HP:0004322Short stature0CHCHD10 CL E G H400916457050ORPHA120515559615903
HP:0004322HP:0004322Short stature0CHCHD10 CL E G H400916457050ORPHA123015559615903
HP:0004322HP:0004322Short stature0CHCHD10 CL E G H400916616209Myopathy, isolated mitochondrial, autosomal dominant616209C4015513OMIM120515559615903
HP:0004322HP:0004322Short stature0CHCHD10 CL E G H400916616209Myopathy, isolated mitochondrial, autosomal dominant616209C4015513OMIM123015559615903
HP:0004322HP:0004322Short stature0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM11901919603277
HP:0004322HP:0004322Short stature0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM12171919603277
HP:0004322HP:0004322Short stature0CHD7 CL E G H55636138ORPHA1175220626608892
HP:0004322HP:0004322Short stature0CHD7 CL E G H55636138ORPHA1198020626608892
HP:0004322HP:0004322Short stature0CHRNG CL E G H11462990ORPHA12061967100730
HP:0004322HP:0004322Short stature0CHRNG CL E G H11462990ORPHA12121967100730
HP:0004322HP:0004322Short stature0CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM12061967100730
HP:0004322HP:0004322Short stature0CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM12121967100730
HP:0004322HP:0004322Short stature0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM12851971603799
HP:0004322HP:0004322Short stature0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM13331971603799
HP:0004322HP:0004322Short stature0CIT CL E G H111132512ORPHA13191985605629
HP:0004322HP:0004322Short stature0CIT CL E G H111132512ORPHA13291985605629
HP:0004322HP:0004322Short stature0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM13191985605629
HP:0004322HP:0004322Short stature0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM13291985605629
HP:0004322HP:0004322Short stature0CLCN5 CL E G H1184300009Dent disease 1300009C1848336OMIM13992023300008
HP:0004322HP:0004322Short stature0CLCN5 CL E G H1184300009Dent disease 1300009C1848336OMIM14222023300008
HP:0004322HP:0004322Short stature0CLCN5 CL E G H1184300554Hypophosphatemic rickets, X-linked recessive300554C1845168OMIM13992023300008
HP:0004322HP:0004322Short stature0CLCN5 CL E G H1184300554Hypophosphatemic rickets, X-linked recessive300554C1845168OMIM14222023300008
HP:0004322HP:0004322Short stature0CLCN5 CL E G H1184308990Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis308990C1839874OMIM13992023300008
HP:0004322HP:0004322Short stature0CLCN5 CL E G H1184308990Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis308990C1839874OMIM14222023300008
HP:0004322HP:0004322Short stature0CLCN7 CL E G H118653ORPHA13882025602727
HP:0004322HP:0004322Short stature0CLCN7 CL E G H118653ORPHA15492025602727
HP:0004322HP:0004322Short stature0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11762586603432
HP:0004322HP:0004322Short stature0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11772586603432
HP:0004322HP:0004322Short stature0CLMP CL E G H798272301ORPHA16824039611693
HP:0004322HP:0004322Short stature0CLMP CL E G H798272301ORPHA16924039611693
HP:0004322HP:0004322Short stature0COG4 CL E G H2583985172ORPHA122118620606976
HP:0004322HP:0004322Short stature0COG4 CL E G H2583985172ORPHA124718620606976
HP:0004322HP:0004322Short stature0COL11A1 CL E G H1301560ORPHA110282186120280
HP:0004322HP:0004322Short stature0COL11A1 CL E G H1301560ORPHA113392186120280
HP:0004322HP:0004322Short stature0COL11A1 CL E G H13012021ORPHA110282186120280
HP:0004322HP:0004322Short stature0COL11A1 CL E G H13012021ORPHA113392186120280
HP:0004322HP:0004322Short stature0COL11A1 CL E G H1301250984ORPHA110282186120280
HP:0004322HP:0004322Short stature0COL11A1 CL E G H1301250984ORPHA113392186120280
HP:0004322HP:0004322Short stature0COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM110282186120280
HP:0004322HP:0004322Short stature0COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM113392186120280
HP:0004322HP:0004322Short stature0COL11A2 CL E G H13022021ORPHA17052187120290
HP:0004322HP:0004322Short stature0COL11A2 CL E G H13022021ORPHA19742187120290
HP:0004322HP:0004322Short stature0COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM17052187120290
HP:0004322HP:0004322Short stature0COL11A2 CL E G H1302215150Otospondylomegaepiphyseal dysplasia215150C0432210OMIM19742187120290
HP:0004322HP:0004322Short stature0COL1A1 CL E G H1277166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM113972197120150
HP:0004322HP:0004322Short stature0COL1A1 CL E G H1277166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM116552197120150
HP:0004322HP:0004322Short stature0COL1A2 CL E G H1278166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM110422198120160
HP:0004322HP:0004322Short stature0COL1A2 CL E G H1278166220Osteogenesis imperfecta with normal sclerae, dominant form166220C0268363OMIM112032198120160
HP:0004322HP:0004322Short stature0COL27A1 CL E G H85301615155Steel syndrome615155C3554594OMIM171122986608461
HP:0004322HP:0004322Short stature0COL27A1 CL E G H85301615155Steel syndrome615155C3554594OMIM181322986608461
HP:0004322HP:0004322Short stature0COL2A1 CL E G H12801856ORPHA112132200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H12801856ORPHA115402200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H128085198ORPHA112132200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H128085198ORPHA115402200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H128093316ORPHA112132200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H128093316ORPHA115402200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H128094068ORPHA112132200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H128094068ORPHA115402200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H1280150600Coxa plana150600C0023234OMIM112132200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H1280150600Coxa plana150600C0023234OMIM115402200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H1280132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness132450C1851536OMIM112132200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H1280132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness132450C1851536OMIM115402200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H12802380Freiberg's diseaseORPHA112132200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H12802380Freiberg's diseaseORPHA115402200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H1280604864Osteoarthritis with mild chondrodysplasia604864C1858079OMIM112132200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H1280604864Osteoarthritis with mild chondrodysplasia604864C1858079OMIM115402200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM112132200120140
HP:0004322HP:0004322Short stature0COL2A1 CL E G H1280271700Spondyloperipheral dysplasia271700C0796173OMIM115402200120140
HP:0004322HP:0004322Short stature0COL3A1 CL E G H1281130050Ehlers-Danlos syndrome, type 4130050C0268338OMIM119352201120180
HP:0004322HP:0004322Short stature0COL3A1 CL E G H1281130050Ehlers-Danlos syndrome, type 4130050C0268338OMIM120832201120180
HP:0004322HP:0004322Short stature0COL3A1 CL E G H12812500Glucocorticoid sensitive hypertensionORPHA119352201120180
HP:0004322HP:0004322Short stature0COL3A1 CL E G H12812500Glucocorticoid sensitive hypertensionORPHA120832201120180
HP:0004322HP:0004322Short stature0COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA119352201120180
HP:0004322HP:0004322Short stature0COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA120832201120180
HP:0004322HP:0004322Short stature0COL5A1 CL E G H1289130000Ehlers-Danlos syndrome, classic type130000C0268335OMIM120772209120215
HP:0004322HP:0004322Short stature0COL5A1 CL E G H1289130000Ehlers-Danlos syndrome, classic type130000C0268335OMIM122462209120215
HP:0004322HP:0004322Short stature0COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA120772209120215
HP:0004322HP:0004322Short stature0COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA122462209120215
HP:0004322HP:0004322Short stature0COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM113702212120240
HP:0004322HP:0004322Short stature0COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM115122212120240
HP:0004322HP:0004322Short stature0COL9A1 CL E G H1297166002ORPHA15942217120210
HP:0004322HP:0004322Short stature0COL9A1 CL E G H1297166002ORPHA17442217120210
HP:0004322HP:0004322Short stature0COL9A1 CL E G H1297250984ORPHA15942217120210
HP:0004322HP:0004322Short stature0COL9A1 CL E G H1297250984ORPHA17442217120210
HP:0004322HP:0004322Short stature0COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM15942217120210
HP:0004322HP:0004322Short stature0COL9A1 CL E G H1297614134Stickler syndrome, type 4614134C3279941OMIM17442217120210
HP:0004322HP:0004322Short stature0COL9A2 CL E G H1298166002ORPHA13362218120260
HP:0004322HP:0004322Short stature0COL9A2 CL E G H1298166002ORPHA14792218120260
HP:0004322HP:0004322Short stature0COL9A2 CL E G H1298250984ORPHA13362218120260
HP:0004322HP:0004322Short stature0COL9A2 CL E G H1298250984ORPHA14792218120260
HP:0004322HP:0004322Short stature0COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM13362218120260
HP:0004322HP:0004322Short stature0COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM14792218120260
HP:0004322HP:0004322Short stature0COL9A3 CL E G H1299166002ORPHA14642219120270
HP:0004322HP:0004322Short stature0COL9A3 CL E G H1299166002ORPHA17032219120270
HP:0004322HP:0004322Short stature0COL9A3 CL E G H1299250984ORPHA14642219120270
HP:0004322HP:0004322Short stature0COL9A3 CL E G H1299250984ORPHA17032219120270
HP:0004322HP:0004322Short stature0COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM1542220607620
HP:0004322HP:0004322Short stature0COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM1552220607620
HP:0004322HP:0004322Short stature0COMT CL E G H1312567ORPHA15792228116790
HP:0004322HP:0004322Short stature0COMT CL E G H1312567ORPHA15872228116790
HP:0004322HP:0004322Short stature0COPB2 CL E G H92762512ORPHA1512232606990
HP:0004322HP:0004322Short stature0COPB2 CL E G H92762512ORPHA1632232606990
HP:0004322HP:0004322Short stature0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM11712291300885
HP:0004322HP:0004322Short stature0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM11752291300885
HP:0004322HP:0004322Short stature0COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM11712291300885
HP:0004322HP:0004322Short stature0COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM11752291300885
HP:0004322HP:0004322Short stature0CPLANE1 CL E G H652502754ORPHA182425801614571
HP:0004322HP:0004322Short stature0CPLANE1 CL E G H652502754ORPHA1123925801614571
HP:0004322HP:0004322Short stature0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM182425801614571
HP:0004322HP:0004322Short stature0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM1123925801614571
HP:0004322HP:0004322Short stature0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11512309605032
HP:0004322HP:0004322Short stature0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11632309605032
HP:0004322HP:0004322Short stature0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0004322HP:0004322Short stature0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0004322HP:0004322Short stature0CRKL CL E G H1399261330ORPHA13982363602007
HP:0004322HP:0004322Short stature0CRKL CL E G H1399261330ORPHA14062363602007
HP:0004322HP:0004322Short stature0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11742494602618
HP:0004322HP:0004322Short stature0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11872494602618
HP:0004322HP:0004322Short stature0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM172926169613129
HP:0004322HP:0004322Short stature0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM191826169613129
HP:0004322HP:0004322Short stature0CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA172926169613129
HP:0004322HP:0004322Short stature0CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA191826169613129
HP:0004322HP:0004322Short stature0CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM119013723604167
HP:0004322HP:0004322Short stature0CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM120113723604167
HP:0004322HP:0004322Short stature0CTDP1 CL E G H915048431ORPHA13232498604927
HP:0004322HP:0004322Short stature0CTDP1 CL E G H915048431ORPHA13482498604927
HP:0004322HP:0004322Short stature0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13232498604927
HP:0004322HP:0004322Short stature0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13482498604927
HP:0004322HP:0004322Short stature0CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13042516604275
HP:0004322HP:0004322Short stature0CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13082516604275
HP:0004322HP:0004322Short stature0CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM15502518606272
HP:0004322HP:0004322Short stature0CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM15912518606272
HP:0004322HP:0004322Short stature0CTSK CL E G H1513763ORPHA11632536601105
HP:0004322HP:0004322Short stature0CTSK CL E G H1513763ORPHA11862536601105
HP:0004322HP:0004322Short stature0CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11632536601105
HP:0004322HP:0004322Short stature0CTSK CL E G H1513265800Pyknodysostosis265800C0238402OMIM11862536601105
HP:0004322HP:0004322Short stature0CUL4B CL E G H845085293ORPHA13102555300304
HP:0004322HP:0004322Short stature0CUL4B CL E G H845085293ORPHA13222555300304
HP:0004322HP:0004322Short stature0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM13102555300304
HP:0004322HP:0004322Short stature0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM13222555300304
HP:0004322HP:0004322Short stature0CUL7 CL E G H98202616ORPHA132421024609577
HP:0004322HP:0004322Short stature0CUL7 CL E G H98202616ORPHA142321024609577
HP:0004322HP:0004322Short stature0CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM132421024609577
HP:0004322HP:0004322Short stature0CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM142321024609577
HP:0004322HP:0004322Short stature0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM113510664617170
HP:0004322HP:0004322Short stature0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM119610664617170
HP:0004322HP:0004322Short stature0CYB5A CL E G H152890796ORPHA11452570613218
HP:0004322HP:0004322Short stature0CYB5A CL E G H152890796ORPHA11482570613218
HP:0004322HP:0004322Short stature0CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0004322HP:0004322Short stature0CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0004322HP:0004322Short stature0CYP11B1 CL E G H1584202010Deficiency of steroid 11-beta-monooxygenase202010C0268292OMIM14582591610613
HP:0004322HP:0004322Short stature0CYP11B1 CL E G H1584202010Deficiency of steroid 11-beta-monooxygenase202010C0268292OMIM14822591610613
HP:0004322HP:0004322Short stature0CYP17A1 CL E G H158690793ORPHA12322593609300
HP:0004322HP:0004322Short stature0CYP17A1 CL E G H158690793ORPHA12572593609300
HP:0004322HP:0004322Short stature0CYP17A1 CL E G H158690796ORPHA12322593609300
HP:0004322HP:0004322Short stature0CYP17A1 CL E G H158690796ORPHA12572593609300
HP:0004322HP:0004322Short stature0CYP19A1 CL E G H1588139300Familial gynecomastia, due to increased aromatase activity139300C1970109OMIM12722594107910
HP:0004322HP:0004322Short stature0CYP19A1 CL E G H1588139300Familial gynecomastia, due to increased aromatase activity139300C1970109OMIM12882594107910
HP:0004322HP:0004322Short stature0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM119229106615003
HP:0004322HP:0004322Short stature0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM123029106615003
HP:0004322HP:0004322Short stature0DDOST CL E G H1650300536ORPHA11542728602202
HP:0004322HP:0004322Short stature0DDOST CL E G H1650300536ORPHA11792728602202
HP:0004322HP:0004322Short stature0DEAF1 CL E G H10522819ORPHA117914677602635
HP:0004322HP:0004322Short stature0DEAF1 CL E G H10522819ORPHA131114677602635
HP:0004322HP:0004322Short stature0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15112860602858
HP:0004322HP:0004322Short stature0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15462860602858
HP:0004322HP:0004322Short stature0DIAPH1 CL E G H1729616632Seizures, cortical blindness, and microcephaly syndrome616632C4225261OMIM15542876602121
HP:0004322HP:0004322Short stature0DIAPH1 CL E G H1729616632Seizures, cortical blindness, and microcephaly syndrome616632C4225261OMIM17582876602121
HP:0004322HP:0004322Short stature0DISP1 CL E G H84976280200ORPHA114519711607502
HP:0004322HP:0004322Short stature0DISP1 CL E G H84976280200ORPHA117819711607502
HP:0004322HP:0004322Short stature0DKC1 CL E G H17363322ORPHA13962890300126
HP:0004322HP:0004322Short stature0DKC1 CL E G H17363322ORPHA14262890300126
HP:0004322HP:0004322Short stature0DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA13962890300126
HP:0004322HP:0004322Short stature0DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA14262890300126
HP:0004322HP:0004322Short stature0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM13962890300126
HP:0004322HP:0004322Short stature0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14262890300126
HP:0004322HP:0004322Short stature0DLL1 CL E G H28514280200ORPHA11772908606582
HP:0004322HP:0004322Short stature0DLL1 CL E G H28514280200ORPHA12062908606582
HP:0004322HP:0004322Short stature0DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA11852909602768
HP:0004322HP:0004322Short stature0DLL3 CL E G H106832311Autosomal recessive spondylocostal dysostosisCN043670ORPHA12282909602768
HP:0004322HP:0004322Short stature0DMP1 CL E G H1758289176ORPHA11252932600980
HP:0004322HP:0004322Short stature0DMP1 CL E G H1758289176ORPHA11392932600980
HP:0004322HP:0004322Short stature0DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM11612938612186
HP:0004322HP:0004322Short stature0DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM13062938612186
HP:0004322HP:0004322Short stature0DNA2 CL E G H1763615807Seckel syndrome 8615807C3891452OMIM12232939601810
HP:0004322HP:0004322Short stature0DNA2 CL E G H1763615807Seckel syndrome 8615807C3891452OMIM12902939601810
HP:0004322HP:0004322Short stature0DNAJC21 CL E G H134218811Balo diseaseORPHA19127030617048
HP:0004322HP:0004322Short stature0DNAJC21 CL E G H134218811Balo diseaseORPHA118727030617048
HP:0004322HP:0004322Short stature0DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM19127030617048
HP:0004322HP:0004322Short stature0DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM118727030617048
HP:0004322HP:0004322Short stature0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM19127030617048
HP:0004322HP:0004322Short stature0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM118727030617048
HP:0004322HP:0004322Short stature0DNAJC3 CL E G H5611445062ORPHA1869439601184
HP:0004322HP:0004322Short stature0DNAJC3 CL E G H5611445062ORPHA1909439601184
HP:0004322HP:0004322Short stature0DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM1869439601184
HP:0004322HP:0004322Short stature0DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM1909439601184
HP:0004322HP:0004322Short stature0DNMT3B CL E G H17892268ORPHA13392979602900
HP:0004322HP:0004322Short stature0DNMT3B CL E G H17892268ORPHA14022979602900
HP:0004322HP:0004322Short stature0DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM13392979602900
HP:0004322HP:0004322Short stature0DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM14022979602900
HP:0004322HP:0004322Short stature0DPF2 CL E G H59771465ORPHA1379964601671
HP:0004322HP:0004322Short stature0DPF2 CL E G H59771465ORPHA1459964601671
HP:0004322HP:0004322Short stature0DPH1 CL E G H1801616901Developmental delay with short stature, dysmorphic features, and sparse hair616901C4310801OMIM11103003603527
HP:0004322HP:0004322Short stature0DPH1 CL E G H1801616901Developmental delay with short stature, dysmorphic features, and sparse hair616901C4310801OMIM11113003603527
HP:0004322HP:0004322Short stature0DPP6 CL E G H18042514ORPHA12223010126141
HP:0004322HP:0004322Short stature0DPP6 CL E G H18042514ORPHA12253010126141
HP:0004322HP:0004322Short stature0DPP6 CL E G H1804616311Mental retardation, autosomal dominant 33616311C4225375OMIM12223010126141
HP:0004322HP:0004322Short stature0DPP6 CL E G H1804616311Mental retardation, autosomal dominant 33616311C4225375OMIM12253010126141
HP:0004322HP:0004322Short stature0DUOX2 CL E G H5050695716ORPHA143413273606759
HP:0004322HP:0004322Short stature0DUOX2 CL E G H5050695716ORPHA166813273606759
HP:0004322HP:0004322Short stature0DUOXA2 CL E G H40575395716ORPHA16932698612772
HP:0004322HP:0004322Short stature0DUOXA2 CL E G H40575395716ORPHA17032698612772
HP:0004322HP:0004322Short stature0DVL3 CL E G H1857616894Robinow syndrome, autosomal dominant 3616894C4225164OMIM11123087601368
HP:0004322HP:0004322Short stature0DVL3 CL E G H1857616894Robinow syndrome, autosomal dominant 3616894C4225164OMIM11413087601368
HP:0004322HP:0004322Short stature0DYNC2H1 CL E G H79659613091Short-rib thoracic dysplasia 3 with or without polydactyly613091C2751311OMIM112032962603297
HP:0004322HP:0004322Short stature0DYNC2H1 CL E G H79659613091Short-rib thoracic dysplasia 3 with or without polydactyly613091C2751311OMIM113762962603297
HP:0004322HP:0004322Short stature0DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM126224595617083
HP:0004322HP:0004322Short stature0DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM130024595617083
HP:0004322HP:0004322Short stature0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM12653133300205
HP:0004322HP:0004322Short stature0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM12863133300205
HP:0004322HP:0004322Short stature0ECEL1 CL E G H9427615065Distal arthrogryposis type 5D615065C3554415OMIM11503147605896
HP:0004322HP:0004322Short stature0ECEL1 CL E G H9427615065Distal arthrogryposis type 5D615065C3554415OMIM11533147605896
HP:0004322HP:0004322Short stature0EFL1 CL E G H79631811Balo diseaseORPHA18825789617538
HP:0004322HP:0004322Short stature0EFL1 CL E G H79631811Balo diseaseORPHA119625789617538
HP:0004322HP:0004322Short stature0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12013226300035
HP:0004322HP:0004322Short stature0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12103226300035
HP:0004322HP:0004322Short stature0EFTUD2 CL E G H934379113ORPHA128230858603892
HP:0004322HP:0004322Short stature0EFTUD2 CL E G H934379113ORPHA131030858603892
HP:0004322HP:0004322Short stature0EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM128230858603892
HP:0004322HP:0004322Short stature0EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM131030858603892
HP:0004322HP:0004322Short stature0EHHADH CL E G H1962615605Fanconi renotubular syndrome 3615605C3810100OMIM11763247607037
HP:0004322HP:0004322Short stature0EHHADH CL E G H1962615605Fanconi renotubular syndrome 3615605C3810100OMIM11773247607037
HP:0004322HP:0004322Short stature0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA11783255604032
HP:0004322HP:0004322Short stature0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA12963255604032
HP:0004322HP:0004322Short stature0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM11783255604032
HP:0004322HP:0004322Short stature0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM12963255604032
HP:0004322HP:0004322Short stature0EIF4A3 CL E G H9775268305Richieri Costa Pereira syndrome268305C1849348OMIM13618683608546
HP:0004322HP:0004322Short stature0EIF4A3 CL E G H9775268305Richieri Costa Pereira syndrome268305C1849348OMIM13818683608546
HP:0004322HP:0004322Short stature0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA16573327130160
HP:0004322HP:0004322Short stature0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17043327130160
HP:0004322HP:0004322Short stature0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0004322HP:0004322Short stature0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0004322HP:0004322Short stature0EMG1 CL E G H104361270ORPHA16316912611531
HP:0004322HP:0004322Short stature0EMG1 CL E G H104361270ORPHA16916912611531
HP:0004322HP:0004322Short stature0ENPP1 CL E G H5167289176ORPHA13703356173335
HP:0004322HP:0004322Short stature0ENPP1 CL E G H5167289176ORPHA13863356173335
HP:0004322HP:0004322Short stature0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0004322HP:0004322Short stature0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0004322HP:0004322Short stature0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA180129331615068
HP:0004322HP:0004322Short stature0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1103329331615068
HP:0004322HP:0004322Short stature0ERCC1 CL E G H20671466ORPHA11063433126380
HP:0004322HP:0004322Short stature0ERCC1 CL E G H20671466ORPHA11103433126380
HP:0004322HP:0004322Short stature0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11063433126380
HP:0004322HP:0004322Short stature0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11103433126380
HP:0004322HP:0004322Short stature0ERCC2 CL E G H20681466ORPHA13603434126340
HP:0004322HP:0004322Short stature0ERCC2 CL E G H20681466ORPHA14793434126340
HP:0004322HP:0004322Short stature0ERCC2 CL E G H2068220295ORPHA13603434126340
HP:0004322HP:0004322Short stature0ERCC2 CL E G H2068220295ORPHA14793434126340
HP:0004322HP:0004322Short stature0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0004322HP:0004322Short stature0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0004322HP:0004322Short stature0ERCC3 CL E G H2071220295ORPHA11863435133510
HP:0004322HP:0004322Short stature0ERCC3 CL E G H2071220295ORPHA12833435133510
HP:0004322HP:0004322Short stature0ERCC3 CL E G H2071616390Trichothiodystrophy 2, photosensitive616390C4225344OMIM11863435133510
HP:0004322HP:0004322Short stature0ERCC3 CL E G H2071616390Trichothiodystrophy 2, photosensitive616390C4225344OMIM12833435133510
HP:0004322HP:0004322Short stature0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM11863435133510
HP:0004322HP:0004322Short stature0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM12833435133510
HP:0004322HP:0004322Short stature0ERCC4 CL E G H207284ORPHA14693436133520
HP:0004322HP:0004322Short stature0ERCC4 CL E G H207284ORPHA15383436133520
HP:0004322HP:0004322Short stature0ERCC4 CL E G H2072220295ORPHA14693436133520
HP:0004322HP:0004322Short stature0ERCC4 CL E G H2072220295ORPHA15383436133520
HP:0004322HP:0004322Short stature0ERCC4 CL E G H2072615272Fanconi anemia, complementation group Q615272C3808988OMIM14693436133520
HP:0004322HP:0004322Short stature0ERCC4 CL E G H2072615272Fanconi anemia, complementation group Q615272C3808988OMIM15383436133520
HP:0004322HP:0004322Short stature0ERCC5 CL E G H20731466ORPHA13613437133530
HP:0004322HP:0004322Short stature0ERCC5 CL E G H20731466ORPHA13743437133530
HP:0004322HP:0004322Short stature0ERCC5 CL E G H2073220295ORPHA13613437133530
HP:0004322HP:0004322Short stature0ERCC5 CL E G H2073220295ORPHA13743437133530
HP:0004322HP:0004322Short stature0ERCC6 CL E G H20741466ORPHA18253438609413
HP:0004322HP:0004322Short stature0ERCC6 CL E G H20741466ORPHA19463438609413
HP:0004322HP:0004322Short stature0ESCO2 CL E G H157570269000Roberts-SC phocomelia syndrome269000C0392475OMIM134227230609353
HP:0004322HP:0004322Short stature0ESCO2 CL E G H157570269000Roberts-SC phocomelia syndrome269000C0392475OMIM137627230609353
HP:0004322HP:0004322Short stature0EXT1 CL E G H2131321ORPHA15243512608177
HP:0004322HP:0004322Short stature0EXT1 CL E G H2131321ORPHA16483512608177
HP:0004322HP:0004322Short stature0EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA15243512608177
HP:0004322HP:0004322Short stature0EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA16483512608177
HP:0004322HP:0004322Short stature0EXT1 CL E G H2131133700Multiple congenital exostosis133700C0015306OMIM15243512608177
HP:0004322HP:0004322Short stature0EXT1 CL E G H2131133700Multiple congenital exostosis133700C0015306OMIM16483512608177
HP:0004322HP:0004322Short stature0EXT2 CL E G H2132321ORPHA13793513608210
HP:0004322HP:0004322Short stature0EXT2 CL E G H2132321ORPHA14663513608210
HP:0004322HP:0004322Short stature0EXT2 CL E G H2132133701Multiple exostoses type 2133701C1851413OMIM13793513608210
HP:0004322HP:0004322Short stature0EXT2 CL E G H2132133701Multiple exostoses type 2133701C1851413OMIM14663513608210
HP:0004322HP:0004322Short stature0EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA13673519601653
HP:0004322HP:0004322Short stature0EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA14043519601653
HP:0004322HP:0004322Short stature0FAM111A CL E G H6390193325ORPHA16424725615292
HP:0004322HP:0004322Short stature0FAM111A CL E G H6390193325ORPHA17924725615292
HP:0004322HP:0004322Short stature0FAM111A CL E G H63901602361Gracile bone dysplasia602361C1865639OMIM16424725615292
HP:0004322HP:0004322Short stature0FAM111A CL E G H63901602361Gracile bone dysplasia602361C1865639OMIM17924725615292
HP:0004322HP:0004322Short stature0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM124522140611061
HP:0004322HP:0004322Short stature0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM129122140611061
HP:0004322HP:0004322Short stature0FANCA CL E G H217584ORPHA126583582607139
HP:0004322HP:0004322Short stature0FANCA CL E G H217584ORPHA131463582607139
HP:0004322HP:0004322Short stature0FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM126583582607139
HP:0004322HP:0004322Short stature0FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM131463582607139
HP:0004322HP:0004322Short stature0FANCB CL E G H218784ORPHA14103583300515
HP:0004322HP:0004322Short stature0FANCB CL E G H218784ORPHA14813583300515
HP:0004322HP:0004322Short stature0FANCC CL E G H217684ORPHA110793584613899
HP:0004322HP:0004322Short stature0FANCC CL E G H217684ORPHA111753584613899
HP:0004322HP:0004322Short stature0FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM110793584613899
HP:0004322HP:0004322Short stature0FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM111753584613899
HP:0004322HP:0004322Short stature0FANCD2 CL E G H217784ORPHA17293585613984
HP:0004322HP:0004322Short stature0FANCD2 CL E G H217784ORPHA18643585613984
HP:0004322HP:0004322Short stature0FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM17293585613984
HP:0004322HP:0004322Short stature0FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM18643585613984
HP:0004322HP:0004322Short stature0FANCE CL E G H217884ORPHA12813586613976
HP:0004322HP:0004322Short stature0FANCE CL E G H217884ORPHA13603586613976
HP:0004322HP:0004322Short stature0FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM12813586613976
HP:0004322HP:0004322Short stature0FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM13603586613976
HP:0004322HP:0004322Short stature0FANCF CL E G H218884ORPHA12453587613897
HP:0004322HP:0004322Short stature0FANCF CL E G H218884ORPHA13123587613897
HP:0004322HP:0004322Short stature0FANCG CL E G H218984ORPHA14733588602956
HP:0004322HP:0004322Short stature0FANCG CL E G H218984ORPHA15353588602956
HP:0004322HP:0004322Short stature0FANCI CL E G H5521584ORPHA179125568611360
HP:0004322HP:0004322Short stature0FANCI CL E G H5521584ORPHA1104025568611360
HP:0004322HP:0004322Short stature0FANCL CL E G H5512084ORPHA126120748608111
HP:0004322HP:0004322Short stature0FANCL CL E G H5512084ORPHA134820748608111
HP:0004322HP:0004322Short stature0FANCM CL E G H5769784ORPHA1117923168609644
HP:0004322HP:0004322Short stature0FANCM CL E G H5769784ORPHA1145023168609644
HP:0004322HP:0004322Short stature0FAS CL E G H3553437ORPHA122711920134637
HP:0004322HP:0004322Short stature0FAS CL E G H3553437ORPHA127511920134637
HP:0004322HP:0004322Short stature0FBN1 CL E G H22002084ORPHA149683603134797
HP:0004322HP:0004322Short stature0FBN1 CL E G H22002084ORPHA154573603134797
HP:0004322HP:0004322Short stature0FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM149683603134797
HP:0004322HP:0004322Short stature0FBN1 CL E G H2200614185Geleophysic dysplasia 2614185C3280054OMIM154573603134797
HP:0004322HP:0004322Short stature0FBN1 CL E G H22003449Mehes syndromeORPHA149683603134797
HP:0004322HP:0004322Short stature0FBN1 CL E G H22003449Mehes syndromeORPHA154573603134797
HP:0004322HP:0004322Short stature0FGD1 CL E G H2245915ORPHA13123663300546
HP:0004322HP:0004322Short stature0FGD1 CL E G H2245915ORPHA13193663300546
HP:0004322HP:0004322Short stature0FGF23 CL E G H8074193100Autosomal dominant hypophosphatemic rickets193100C0342642OMIM11583680605380
HP:0004322HP:0004322Short stature0FGF23 CL E G H8074193100Autosomal dominant hypophosphatemic rickets193100C0342642OMIM11773680605380
HP:0004322HP:0004322Short stature0FGF8 CL E G H2253280200ORPHA1663686600483
HP:0004322HP:0004322Short stature0FGF8 CL E G H2253280200ORPHA1693686600483
HP:0004322HP:0004322Short stature0FGFR1 CL E G H2260280200ORPHA15303688136350
HP:0004322HP:0004322Short stature0FGFR1 CL E G H2260280200ORPHA15973688136350
HP:0004322HP:0004322Short stature0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM15303688136350
HP:0004322HP:0004322Short stature0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM15973688136350
HP:0004322HP:0004322Short stature0FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA15303688136350
HP:0004322HP:0004322Short stature0FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA15973688136350
HP:0004322HP:0004322Short stature0FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM14663689176943
HP:0004322HP:0004322Short stature0FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM15013689176943
HP:0004322HP:0004322Short stature0FGFR3 CL E G H226193274ORPHA15413690134934
HP:0004322HP:0004322Short stature0FGFR3 CL E G H226193274ORPHA15423690134934
HP:0004322HP:0004322Short stature0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12143693605830
HP:0004322HP:0004322Short stature0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12673693605830
HP:0004322HP:0004322Short stature0FIG4 CL E G H98963472MeningococcemiaORPHA155816873609390
HP:0004322HP:0004322Short stature0FIG4 CL E G H98963472MeningococcemiaORPHA164916873609390
HP:0004322HP:0004322Short stature0FKBP10 CL E G H60681259450Bruck syndrome 1259450C1850168OMIM119218169607063
HP:0004322HP:0004322Short stature0FKBP10 CL E G H60681259450Bruck syndrome 1259450C1850168OMIM124118169607063
HP:0004322HP:0004322Short stature0FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA119218169607063
HP:0004322HP:0004322Short stature0FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA124118169607063
HP:0004322HP:0004322Short stature0FKBP10 CL E G H60681610968Osteogenesis imperfecta, type XI610968C3151218OMIM119218169607063
HP:0004322HP:0004322Short stature0FKBP10 CL E G H60681610968Osteogenesis imperfecta, type XI610968C3151218OMIM124118169607063
HP:0004322HP:0004322Short stature0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1127427310607273
HP:0004322HP:0004322Short stature0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1143927310607273
HP:0004322HP:0004322Short stature0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA11723749193067
HP:0004322HP:0004322Short stature0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA11743749193067
HP:0004322HP:0004322Short stature0FLII CL E G H2314819ORPHA11553750600362
HP:0004322HP:0004322Short stature0FLII CL E G H2314819ORPHA11583750600362
HP:0004322HP:0004322Short stature0FLNA CL E G H23162301ORPHA118933754300017
HP:0004322HP:0004322Short stature0FLNA CL E G H23162301ORPHA121303754300017
HP:0004322HP:0004322Short stature0FLNA CL E G H23162484Glaucoma type 1CORPHA118933754300017
HP:0004322HP:0004322Short stature0FLNA CL E G H23162484Glaucoma type 1CORPHA121303754300017
HP:0004322HP:0004322Short stature0FLNA CL E G H2316311300Oto-palato-digital syndrome, type I311300C0265251OMIM118933754300017
HP:0004322HP:0004322Short stature0FLNA CL E G H2316311300Oto-palato-digital syndrome, type I311300C0265251OMIM121303754300017
HP:0004322HP:0004322Short stature0FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM118933754300017
HP:0004322HP:0004322Short stature0FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM121303754300017
HP:0004322HP:0004322Short stature0FLNB CL E G H2317150250Larsen syndrome, dominant type150250C1835564OMIM17863755603381
HP:0004322HP:0004322Short stature0FLNB CL E G H2317150250Larsen syndrome, dominant type150250C1835564OMIM19883755603381
HP:0004322HP:0004322Short stature0FMR1 CL E G H2332261483ORPHA13173775309550
HP:0004322HP:0004322Short stature0FMR1 CL E G H2332261483ORPHA13223775309550
HP:0004322HP:0004322Short stature0FN1 CL E G H2335184255Spondylometaphyseal dysplasia - Sutcliffe type184255C0432221OMIM14733778135600
HP:0004322HP:0004322Short stature0FN1 CL E G H2335184255Spondylometaphyseal dysplasia - Sutcliffe type184255C0432221OMIM16093778135600
HP:0004322HP:0004322Short stature0FOXE1 CL E G H230495713ORPHA1693806602617
HP:0004322HP:0004322Short stature0FOXE1 CL E G H230495713ORPHA1703806602617
HP:0004322HP:0004322Short stature0FOXH1 CL E G H8928280200ORPHA12063814603621
HP:0004322HP:0004322Short stature0FOXH1 CL E G H8928280200ORPHA12203814603621
HP:0004322HP:0004322Short stature0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM11374006612280
HP:0004322HP:0004322Short stature0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM11884006612280
HP:0004322HP:0004322Short stature0G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM14056613742
HP:0004322HP:0004322Short stature0GAS1 CL E G H2619280200ORPHA1524165139185
HP:0004322HP:0004322Short stature0GAS1 CL E G H2619280200ORPHA1584165139185
HP:0004322HP:0004322Short stature0GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM12834170305371
HP:0004322HP:0004322Short stature0GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM13044170305371
HP:0004322HP:0004322